Blood diseases often result from impaired maturation processes and the proper functioning of blood morphotic elements. The most common haematological diseases are haemophilia, anemia, leukemia and thrombocytopenia. What causes them and are they dangerous?
Blood makes up about 10% of our body weight and is one of the most important human tissues. Its complex structure resembles a multi-element puzzle that ensures the balance and safety of the body - e.g. during body injuries and hemorrhages. Disruption of these processes may be the result of variousblood diseases . Here are the most important of them.
Blood composition and functions
Blood is the most important human body fluid. Structurally, this remarkable, fluid connective tissue is a suspension that combines liquids and morphotic elements (solids). Cellular components account for about 44% of the total blood volume, while the liquid fraction - plasma - the remaining 55%.
The most numerous components of morphotic elements are erythrocytes - red blood cells - that contain a pigment (hemoglobin). It is thanks to its specialized structure, made of heme molecules and an iron cation, that it is possible to efficiently bind oxygen molecules, which is crucial in the process of cellular respiration.
White blood cells - in turn, are a diverse family of cells that are key to the body's defense against diseases caused by pathogens. They can be divided into granulocytes, monocytes and lymphocytes.
Blood has many important functions, the most important of which are:
- transport of oxygen to tissues and discharge of carbon dioxide to the lungs,
- transport of nutrients from the digestive tract,
- body temperature regulation,
- maintaining acid-base balance (proper pH),
- discharge of metabolic products to the kidneys and glands,
- participation in immunological processes (specific and non-specific immunity),
- formation of a thrombus during an injury or damage to a vessel.
The most common blood diseases
Hemophilia
Hemophilia, otherwise known as a hemorrhagic diathesis, characterized bycongenital deficiency of blood clotting factors. It is a genetic disease closely related to gender. The condition is inherited recessively, which means that it affects only people who fully express the recessive gene.
Women, as owners of two X chromosomes, have a slightly "privileged position" here, because in the case of expressing one normal copy of the gene and one mutant copy, they will not develop the disease, but will only be carriers of hemophilia. The son of such a woman (with X and Y chromosomes), who inherits the defective gene, will unfortunately fall ill.
Hemophilia was often called the "disease of kings". Many representatives of royal families all over Europe suffered from it, who passed on mutations to successive generations of aristocrats.
There are 3 variants of this disease, resulting from the lack of a specific protein:
- haemophilia A (factor VIII deficiency),
- hemophilia B (factor IX deficiency),
- hemophilia type C (factor (XI) deficiency.
In he althy people, each mechanical damage to the tissues in the vicinity of a blood vessel triggers a complex cascade of processes leading to the formation of the proper factor that initiates blood clotting. Fibrinogen (a protein present in the blood plasma) is converted into fibrin, which builds the network of fibers that are the basis for the formation of a clot.
In people with haemophilia, the blood clotting process and the natural building of a clot are significantly impeded, which results in a longer bleeding time. In more serious trauma, people with hemophilia may die of bleeding or severe internal bleeding (including retroperitoneal or central nervous system effects).
This condition can also manifest itself in:
- extensive bruises,
- subcutaneous hematomas and ecchymoses,
- with hematuria,
- frequent nose bleeds.
Recurrent hemorrhages very often affect the lower body, which is related to the force of gravity and increased blood pressure during an upright posture. For example, they can appear in the joint areas (elbows, knees, or hips) which can cause swelling, pain and restriction of movement.
Strokes can also affect the muscles (mainly the lower limbs), which the patient feels as numbness, tingling, sometimes burning pain, and even paralysis of certain parts. Recurrent episodes of internal hemorrhage can cause permanent degeneration of joints and muscles and make it difficult to move around. It may be characteristic of the diagnosis of haemophilia that most often the joints of the hands suffering from haemophilia usually remain ingood condition.
Unfortunately, there is as yet no cure for the causes of hemophilia. Symptomatic treatments are known which consist of the intravenous administration of the missing blood coagulation factors. After appropriate training, patients can administer preparations in the form of concentrates at home.
Symptom treatment also relieves the pain and swelling associated with bruises in the joints and muscles. Appropriately selected physiotherapy and body massages can also be helpful.
Anemia
Anemia - or anemia - is a disease involving the presence of a reduced level of hemoglobin in the body. The normal concentration of hemoglobin in erythrocytes in men should be between 13 and 14 g / dL, and in women between 12 and 13 g / dL. Any values deviating below these parameters should be a warning sign and a signal for further anemia diagnosis.
There may be several reasons for the occurrence of such a disorder, the most common are:
- disturbances in the production of red blood cells - which translate directly into a reduced number of erythrocytes containing hemoglobin,
- increased degradation of red blood cells - resulting from genetic conditions,
- Haemorrhage due to trauma or occult blood loss (occurring regularly, e.g. during gastrointestinal bleeding, blood in stools).
Anemia can sometimes be a symptom of a serious cancer of the bone marrow (e.g. multiple myeloma) or a genetic condition (sickle cell anemia or autoimmune diseases).
Very often anemia results from the deficiency of specific micronutrients. The lack of a sufficient amount of such substances in the body disrupts the proper production of red blood cells (erythropoiesis). These types of anemia, otherwise known as deficiency anemia, may result from insufficient supply:
- iron (microcytic anemia),
- folic acid,
- vitamin B12 (pernicious anemia),
- copper.
Anemia caused by iron deficiency occurs in newborns and infants, especially premature babies or children who do not have access to natural breast milk.
In adults, anemia associated with decreased iron levels is often diagnosed in women with heavy periods. Older people (over 50 or 60 years of age), suffering from lesions of the gastrointestinal tract (polyps and tumors of the large intestine, stomach ulcers), associated with latent bleeding, may also be exposed to this type of disease.
Other external factors that can trigger anemiaresulting from bone marrow damage can be various toxins, irradiation with ionizing radiation, X rays or gamma rays.
The symptoms of anemia may vary slightly depending on the underlying condition. However, the most common symptoms include:
- chronic fatigue,
- getting tired quickly,
- weakness,
- difficulty concentrating,
- learning problems,
- headaches and dizziness.
Additional symptoms of iron deficiency anemia may also include excessive dryness of the skin, brittle, falling out hair and pale nails with characteristic grooves running along the plate.
Characterization of the causes of anemia requires in-depth diagnosis based on thorough blood tests, micronutrient concentration, sometimes fecal occult blood tests or bone marrow tests.
The most commonly diagnosed iron deficiency anemia is the easiest to treat. Such a disease can most often be cured thanks to appropriate supplements and a varied diet (rich in fresh vegetables and fruits, whole grains and red meat or offal).
Leukemias
One of the most serious blood diseases are leukemias - a group of malignant neoplasms affecting different lines from which morphotic elements are formed.
A characteristic disorder of leukemias is the "stopping" of blood cells in the process of hematopoiesis (blood formation) at one of the stages of maturation. Depending on the stage of differentiation and maturation of blood cells, there will be neoplastic changes and pathological clonal growth of a given lineage - two types of leukemias can be distinguished: myeloid and lymphatic.
In turn, in terms of its course, the disease can be classified as acute or chronic. The most dangerous leukemias are:
- acute myeloid leukemia (AML)
This variant accounts for approximately 80% of adult acute leukemias. The disease is caused by the uncontrolled proliferation of early blood precursor cells in the bone marrow which becomes ineffective. Immature and non-functional blasts begin to accumulate in the body, and the complex "ladder" of formation of individual stages of blood cells is disrupted.
- acute lymphoblastic leukemia (ALL)
Neoplastic growth affects the lymphoid line of blood cells, resulting in the production of a large number of immature lymphocytes (precursors to B or T lymphocytes) that disturb the blood ratio. Diseaseit progresses very quickly and, if left untreated, leads to death within even a few months. This form of leukemia is very common in young children (between the ages of 2 and 5).
Chronic leukemias can develop slowly and latently, even for several years, until the so-called blast crisis (acute phase of the disease). These diseases have a milder course and a better prognosis than acute forms of leukemia, but they occur much less frequently. This type includes:
- chronic myeloid leukemia (CML) - classified as myeloproliferative syndromes - a group of diseases characterized by the overproduction of even a few morphotic elements of the blood.
- chronic lymphoid leukemia (CLL) - one of the mildest known forms of leukemia, most often diagnosed in the elderly over 60.
A person's risk of developing leukemia can be influenced by many factors. The genetic background is certainly of great importance. It has been proven that, for example, patients with Down syndrome are up to 20 times more likely to develop acute myeloid leukemia compared to he althy people.
Contact with toxic substances that can disturb the functioning of the bone marrow is also dangerous: benzene derivatives, pesticides and herbicides, solvents, tobacco smoke or cytostatics used in chemotherapy.
Leukemias are also likely to develop more frequently in people with impaired immune system functions or taking immunosuppressive drugs (e.g. after organ transplants).
The symptoms of developing leukemias can sometimes be vague, akin to common colds and infections, including:
- general weakness of the body,
- low-grade fever,
- immune disorders,
- headaches and joint pains,
- weight loss,
- lack of appetite,
- skin lesions, herpes,
- enlarged lymph nodes.
If symptoms worsen, it is necessary to perform diagnostic tests as soon as possible: complete blood count with smear and biochemical tests. If acute leukemia is suspected, a bone marrow biopsy is also performed.
Acute leukemias are a very serious disease, so in the event of their detection, the key is quick diagnosis and selection of the most effective form of therapy. One of the most commonly used methods of treatment are i.a. bone marrow transplants, chemotherapy and radiotherapy.
Thrombocytopenia
Thrombocytopenia, otherwise known asthrombocytopenia - is one of the most common disorders of the coagulation system, especially in the elderly over 50 years of age. It is diagnosed when the peripheral blood platelet count is less than 150,000 / µL.
It is worth remembering, however, that some people may have genetically determined thrombocytopenia, where the platelet count remains at 100,000-150,000 / µl for many months without causing any negative symptoms. This type of tendency may occur even in about 2.5% of the he althy population, therefore the most important thing in the diagnosis of thrombocytopenia is to assess the general trend of the decrease in the number of thrombocytes in a particular patient.
The right amount of platelets is essential for maintaining homeostasis in the body. These cells are crucial not only in the process of thrombus formation (e.g. during an injury), but also for maintaining the proper fluidity and density of blood in the vessels.
The most common cause of thrombocytopenia is disturbance in the production of platelets in the bone marrow or their destruction in the blood (e.g. as a result of stimulation of the immune system). Acquired thrombocytopenia may result, inter alia, from with:
- vitamin B12 or folate deficiencies (similar to anemia)
- tumors involving myeloid cells, tumor metastasis,
- bone marrow damage caused by physical and chemical factors (ionizing radiation, cytostatics, alcohol intoxication),
- severe viral and bacterial infections (e.g. tuberculosis).
Sometimes too low platelet count may be associated with hormonal fluctuations during the cycle in young women (so-called cyclic thrombocytopenia) or in the course of autoimmune diseases. What symptoms might be a symptom of thrombocytopenia? The most common are:
- frequent nose bleeds,
- difficulty stopping bleeding after injury,
- heavy periods,
- tendency to bruise and bruise on the skin,
- bleeding gums.
Treatment of thrombocytopenia is usually initiated at very low platelet counts (below 30-50,000 / µl) using, for example, glucocorticoid drugs or immunosuppressants. In milder cases, it is usually sufficient to eliminate harmful factors or deficiencies that may affect cell production.
If you have any doubts or concerns about your blood test results, be sure to consult your doctor. This way you can detect the early stages of a possible disease and implement appropriate treatment.